NM_000138.5(FBN1):c.4014A>G (p.Val1338=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 14, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000611323.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4014A>G (p.Val1338=)]
NM_000138.5(FBN1):c.4014A>G (p.Val1338=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Profile neighbors for GEO Profiles (Select 77130589) (200)
GEO Profiles
-
Gene Links for GEO Profiles (Select 77138720) (1)
Gene
-
SRSF6 serine and arginine rich splicing factor 6 [Homo sapiens]
SRSF6 serine and arginine rich splicing factor 6 [Homo sapiens]Gene ID:6431Gene
-
Related DataSets for GEO Profiles (Select 109122972) (1)
GEO DataSets
-
Polycystic ovary syndrome: proliferative phase endometrial cell types
Polycystic ovary syndrome: proliferative phase endometrial cell typesAccession: GDS4987GEO DataSets
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Last Updated: May 7, 2024